7968[HGNC] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 2293385	NM_003889.4(NR1I2):c.46C>T (p.His16Tyr)	NR1I2 (H16Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201899	NM_003889.4(NR1I2):c.78G>T (p.Lys26Asn)	NR1I2 (K26N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201900	NM_003889.4(NR1I2):c.91G>A (p.Ala31Thr)	NR1I2 (A70T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300932	NM_003889.4(NR1I2):c.109G>A (p.Gly37Ser)	NR1I2 (G37S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201894	NM_003889.4(NR1I2):c.124C>T (p.Arg42Cys)	NR1I2 (R42C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457186	NM_003889.4(NR1I2):c.178G>A (p.Gly60Arg)	NR1I2 (G60R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221587	NM_003889.4(NR1I2):c.248C>A (p.Ala83Asp)	NR1I2 (A122D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207300	NM_003889.4(NR1I2):c.298C>T (p.Arg100Cys)	NR1I2 (R100C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773133	NM_003889.4(NR1I2):c.315C>T (p.Ser105=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589526	NM_003889.4(NR1I2):c.346G>A (p.Glu116Lys)	NR1I2 (E116K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511315	NM_003889.4(NR1I2):c.352G>A (p.Val118Met)	NR1I2 (V118M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710422	NM_003889.4(NR1I2):c.369C>T (p.Ala123=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3201896	NM_003889.4(NR1I2):c.379C>T (p.Arg127Trp)	NR1I2 (R166W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300933	NM_003889.4(NR1I2):c.394C>T (p.Arg132Trp)	NR1I2 (R132W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207698	NM_003889.4(NR1I2):c.401G>C (p.Gly134Ala)	NR1I2 (G173A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297011	NM_003889.4(NR1I2):c.437A>G (p.Glu146Gly)	NR1I2 (E185G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201897	NM_003889.4(NR1I2):c.484T>G (p.Phe162Val)	NR1I2 (F162V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775899	NM_003889.4(NR1I2):c.492T>C (p.Thr164=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3300934	NM_003889.4(NR1I2):c.493A>G (p.Thr165Ala)	NR1I2 (T204A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654059	NM_003889.4(NR1I2):c.543C>T (p.Gly181=)	NR1I2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2379440	NM_003889.4(NR1I2):c.547G>A (p.Glu183Lys)	NR1I2 (E183K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408368	NM_003889.4(NR1I2):c.608G>A (p.Arg203Gln)	NR1I2 (R203Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201898	NM_003889.4(NR1I2):c.628A>G (p.Lys210Glu)	NR1I2 (K249E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405177	NM_003889.4(NR1I2):c.647G>A (p.Arg216Gln)	NR1I2 (R179Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726853	NM_003889.4(NR1I2):c.681C>A (p.Pro227=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787169	NM_003889.4(NR1I2):c.696C>T (p.Gly232=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2377653	NM_003889.4(NR1I2):c.787T>C (p.Tyr263His)	NR1I2 (Y263H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369737	NM_003889.4(NR1I2):c.788A>G (p.Tyr263Cys)	NR1I2 (Y226C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734070	NM_003889.4(NR1I2):c.792C>T (p.Phe264=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2209708	NM_003889.4(NR1I2):c.808G>A (p.Glu270Lys)	NR1I2 (E233K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597519	NM_003889.4(NR1I2):c.811G>A (p.Asp271Asn)	NR1I2 (D310N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300936	NM_003889.4(NR1I2):c.817A>G (p.Ile273Val)	NR1I2 (I273V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549600	NM_003889.4(NR1I2):c.827T>A (p.Leu276Gln)	NR1I2 (L239Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788396	NM_003889.4(NR1I2):c.834G>A (p.Gly278=)	NR1I2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3201892	NM_003889.4(NR1I2):c.1019A>G (p.Tyr340Cys)	NR1I2 (Y379C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375868	NM_003889.4(NR1I2):c.1058G>A (p.Arg353His)	NR1I2 (R316H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324530	NM_003889.4(NR1I2):c.1064G>T (p.Gly355Val)	NR1I2 (G318V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207489	NM_003889.4(NR1I2):c.1078C>T (p.Arg360Cys)	NR1I2 (R323C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300935	NM_003889.4(NR1I2):c.1139A>G (p.Asn380Ser)	NR1I2 (N343S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201893	NM_003889.4(NR1I2):c.1142G>A (p.Arg381Gln)	NR1I2 (R381Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300931	NM_003889.4(NR1I2):c.1156C>T (p.His386Tyr)	NR1I2 (H386Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547189	NM_003889.4(NR1I2):c.1247A>T (p.Asp416Val)	NR1I2 (D379V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391633	NM_003889.4(NR1I2):c.1279G>C (p.Glu427Gln)	NR1I2 (E466Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808592	GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1	ADPRH, ARHGAP31 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527038	GRCh37/hg19 3q13.33(chr3:119354755-119773920)	CFAP91, COX17 +3 more	Copy number gain	not specified	GUncertain significance
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395633	GRCh37/hg19 3q13.33(chr3:119188677-119500751)x3	ADPRH, CD80 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253772	GRCh37/hg19 3q13.33(chr3:119188677-119500810)x3	CFAP91, PLA1A +7 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 63